Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
B4GALT5_chr20_49627945_49718878	49643922	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0220 a0002c0004t0005g0220	1	364	0.0028	12	c.365 others(27): Show c.365-284_365-273dupAAAAAAAAAAAA	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	3/8			chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49663675	G G	GAAAAAAA others(5): Show GAAAAAAAAAAGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0096 a0001c0001t0044g0096	1	364	0.0028	12	c.116 others(29): Show c.116-6974_116-6973insTCTTTTTTTTTT	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8			chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49664421	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	364	0.0028	12	c.116 others(29): Show c.116-7731_116-7720dupGTGTGTGTGTGT	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8			chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49694658	A A	AGGAAAGG others(5): Show AGGAAAGGGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp1 others(80): Show HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01168.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG03017.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03831.hp2 HG04184.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA19000.hp1 NA19004.hp1 NA19010.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19075.hp1 NA19077.hp1 NA19082.hp1 NA19084.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0004 a0001c0001 a0001c0007 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 others(14): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0038 a0001c0001t0039 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0007t0002 a0002c0004t0005 a0002c0004t0014	a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 others(80): Show a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0219 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0120 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0136 a0001c0001t0004g0181 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0357 a0001c0001t0018g0102 a0001c0001t0018g0109 a0001c0001t0018g0119 a0001c0001t0020g0028 a0001c0001t0020g0036 a0001c0001t0021g0185 a0001c0001t0021g0213 a0001c0001t0024g0020 a0001c0001t0025g0059 a0001c0001t0025g0060 a0001c0001t0029g0001 a0001c0001t0038g0214 a0001c0001t0039g0184 a0001c0001t0045g0069 a0001c0001t0046g0038 a0001c0001t0047g0034 a0001c0001t0048g0121 a0001c0007t0002g0061 a0002c0004t0005g0241 a0002c0004t0005g0244 a0002c0004t0014g0233	83	364	0.2280	12	c.115 others(31): Show c.115+18906_115+18917dupCTTTCCCTTTCC	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8			chr20	TogoVar
BAALC_chr8_103135725_103235305	103171390	A A	AAGGAAGG others(5): Show AAGGAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01071.hp2 others(13): Show HG00140.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01496.hp1 HG01891.hp1 HG02258.hp1 HG02602.hp2 HG02647.hp2 HG03130.hp1 HG03239.hp1 NA18522.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0005t0023 a0002c0004t0003	a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0271 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0275 a0001c0001t0006g0031 a0001c0001t0006g0272 a0001c0001t0008g0261 a0001c0005t0023g0038 a0002c0004t0003g0001	16	332	0.0482	12	c.160 others(31): Show c.160+30342_160+30343insAGGAGGAAGGAA	BAALC	ENSG00000164929.17	transcript	ENST00000309982.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
BABAM2_chr2_27885729_28343901	27942791	A A	AATTTATT others(5): Show AATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp2 HG02258.hp2 others(4): Show HG00733.hp2 HG01167.hp2 HG02258.hp2 HG02922.hp1 HG03225.hp2 NA18974.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0070 others(4): Show a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0002g0038 a0001c0001t0003g0067 a0001c0001t0003g0135 a0001c0001t0003g0136	7	158	0.0443	12	c.205 others(31): Show c.205+12911_205+12922dupTATTTATTTATT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	27983942	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG02723.hp2 others(2): Show HG01891.hp2 HG02622.hp1 HG02723.hp2 HG02922.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0001g0091 a0001c0001t0002g0033 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0091 a0001c0001t0002g0033 a0001c0001t0002g0130 a0001c0001t0003g0137	5	158	0.0317	12	c.206 others(29): Show c.206-4043_206-4032dupTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	27985057	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 HG02922.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0003 a0001c0001t0001g0013 a0001c0001t0002g0003	2	158	0.0127	12	c.206 others(29): Show c.206-2906_206-2895dupGTGTGTGTGTGT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28013694	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02040.hp2 HG02622.hp1 HG01168.hp2 HG02040.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0002g0033 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0002g0033	3	158	0.0190	12	c.301 others(31): Show c.301-11507_301-11496dupACACACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28020952	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18969.hp1 NA18974.hp1 HG02258.hp2 NA18969.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0044 a0001c0001t0001g0120 a0001c0001t0001g0142	3	158	0.0190	12	c.301 others(29): Show c.301-4246_301-4235dupCACACACACACA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28026884	A A	AGATATAT others(5): Show AGATATATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01346.hp2 others(1): Show HG00735.hp2 HG01081.hp2 HG01346.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0075 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0001t0001g0079	4	158	0.0253	12	c.495 others(29): Show c.495+1464_495+1465insGATATATATATT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11			chr2	TogoVar
BABAM2_chr2_27885729_28343901	28040294	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	158	0.0063	12	c.496 others(29): Show c.496-5418_496-5407dupTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28076458	A A	ATATTTAT others(5): Show ATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02559.hp1 HG01496.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0140 a0001c0001t0002g0141	2	158	0.0127	12	c.570 others(31): Show c.570+30674_570+30685dupTTTATTTATTTA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112083	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01099.hp2 others(12): Show HG00735.hp1 HG00738.hp1 HG01099.hp2 HG01109.hp2 HG01934.hp2 HG02074.hp2 HG02145.hp1 HG02155.hp1 HG02280.hp2 HG02615.hp1 HG02738.hp2 HG03017.hp2 HG03453.hp2 HG03688.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0034 others(12): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0113 a0001c0001t0002g0011 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0047 a0001c0001t0002g0131	15	158	0.0949	12	c.571 others(31): Show c.571-17134_571-17123dupCTTTCTTTCTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112146	T T	TTTCTTTC others(5): Show TTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	158	0.0063	12	c.571 others(31): Show c.571-17123_571-17122insCTTTCTTTCCTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112189	C C	CCCTTCCT others(5): Show CCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	158	0.0063	12	c.571 others(31): Show c.571-17079_571-17078insTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTTCCT others(5): Show CCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	158	0.0063	12	c.571 others(31): Show c.571-17053_571-17042dupCCTTCCTTCCTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28176569	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02258.hp2 HG02572.hp2 HG01433.hp1 HG02258.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0003g0121 a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0003g0121	3	158	0.0190	12	c.680 others(31): Show c.680+47205_680+47216dupAAAAAAAAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28183739	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00738.hp2 others(33): Show HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01891.hp1 HG02027.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02622.hp2 HG02735.hp1 HG02970.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03834.hp1 HG03834.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18982.hp2 NA18986.hp2 NA19077.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 others(33): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0028 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0149 a0001c0001t0005g0119	36	158	0.2279	12	c.681 others(31): Show c.681-53439_681-53428dupACACACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28183739	T T	TCTCACAC others(5): Show TCTCACACACACA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp2 HG01496.hp1 others(3): Show HG00733.hp2 HG01167.hp2 HG01496.hp1 HG02559.hp1 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0002g0064 a0001c0001t0002g0140 others(3): Show a0001c0001t0001g0008 a0001c0001t0002g0064 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0003g0135 a0001c0001t0003g0136	6	158	0.0380	12	c.681 others(31): Show c.681-53462_681-53461insTCACACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28183739	T T	TCTCTCAC others(5): Show TCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02486.hp2 HG02630.hp2 others(2): Show HG02135.hp1 HG02486.hp2 HG02630.hp2 HG02970.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0057 a0001c0001t0002g0001 a0001c0001t0002g0002 others(2): Show a0001c0001t0001g0057 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0036	5	158	0.0317	12	c.681 others(31): Show c.681-53462_681-53461insTCTCACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28196836	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	158	0.0063	12	c.681 others(31): Show c.681-40350_681-40339dupTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28200758	T T	TTTTGTTT others(5): Show TTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	158	0.0063	12	c.681 others(31): Show c.681-36428_681-36417dupGTTTGTTTGTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28248207	C C	CTTTTTCT others(5): Show CTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp1 HG01168.hp2 others(6): Show HG00738.hp2 HG01168.hp1 HG01168.hp2 HG02074.hp1 HG02074.hp2 HG02976.hp1 NA18968.hp1 NA18968.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0072 others(6): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0146 a0001c0001t0002g0116 a0001c0001t0002g0144 a0001c0001t0002g0151	9	158	0.0570	12	c.934 others(29): Show c.934+3350_934+3351insCTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28335154	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	158	0.0063	12	c.108 others(31): Show c.1089-3280_1089-3269dupTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACE2_chr21_41163160_41287530	41174138	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0201 a0001c0001t0007g0201	1	272	0.0037	12	c.312 others(29): Show c.312+5563_312+5564insTTTTTTTTTTTT	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8			chr21	TogoVar
BACE2_chr21_41163160_41287530	41198849	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0145 a0001c0001t0029g0145	1	272	0.0037	12	c.313 others(31): Show c.313-27390_313-27379dupTATTTATTTATT	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACE2_chr21_41163160_41287530	41213408	G G	GTGAGAGG others(5): Show GTGAGAGGTGGTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp2 HG02132.hp1 others(6): Show HG02056.hp1 HG02056.hp2 HG02132.hp1 NA18956.hp1 NA18956.hp2 NA18993.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0045 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0045 a0001c0002t0001 a0001c0002t0003	a0001c0001t0003g0099 a0001c0001t0045g0212 a0001c0002t0001g0096 others(6): Show a0001c0001t0003g0099 a0001c0001t0045g0212 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0115 a0001c0002t0001g0197 a0001c0002t0001g0237 a0001c0002t0003g0016 a0001c0002t0003g0116	9	272	0.0331	12	c.313 others(31): Show c.313-12856_313-12845dupGAGAGGTGGTTT	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACE2_chr21_41163160_41287530	41235854	A A	AAATGAAT others(5): Show AAATGAATGAATG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show HG02258.hp2 HG02615.hp2 HG02723.hp2 HG03225.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0027 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0027 a0001c0002t0059	a0001c0001t0003g0178 a0001c0001t0005g0030 a0001c0001t0005g0058 others(2): Show a0001c0001t0003g0178 a0001c0001t0005g0030 a0001c0001t0005g0058 a0001c0001t0027g0182 a0001c0002t0059g0265	5	272	0.0184	12	c.402 others(29): Show c.402-1644_402-1633dupTGAATGAATGAA	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACE2_chr21_41163160_41287530	41286119	T T	TATAGATA others(5): Show TATAGATAGATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG01884.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0214 a0001c0001t0008g0012 a0001c0001t0004g0214 a0001c0001t0008g0012	2	272	0.0074	12	c.10 others(25): Show c.10495_*10496insATAGATAGATAG	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding		3590		chr21	TogoVar
BACE2_chr21_41163160_41287530	41287355	A A	ATGTATGC others(5): Show ATGTATGCTCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0208 a0001c0001t0030g0208	1	272	0.0037	12	c.11 others(25): Show c.11731_*11732insTGTATGCTCAGC	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding		4826		chr21	TogoVar
BACH1_chr21_29293922_29351148	29306169	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18972.hp1 NA19012.hp1 others(1): Show NA18970.hp1 NA18972.hp1 NA19012.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0007g0244 others(1): Show a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0245	4	368	0.0109	12	c.-61 others(29): Show c.-61+7247_-61+7258dupGTGTGTGTGTGT	BACH1	ENSG00000156273.16	transcript	ENST00000286800.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACH2_chr6_89921528_90301843	89959097	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0049 a0001c0001t0013g0049	1	194	0.0052	12	c.244 others(29): Show c.244-7247_244-7236dupTGTGTGTGTGTG	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	6/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90014420	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0013 a0001c0001t0081g0013	1	194	0.0052	12	c.-12 others(29): Show c.-12-5576_-12-5565dupCACACACACACA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90014440	G G	GTGTGTGT others(5): Show GTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0109 a0001c0003t0109	a0001c0003t0109g0056 a0001c0003t0109g0056	1	194	0.0052	12	c.-12 others(29): Show c.-12-5585_-12-5584insTATACACACACA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90046921	A A	ATTTCTTT others(5): Show ATTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18522.hp1 HG03669.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0057 a0001c0002t0053 a0001c0002t0057	a0001c0002t0053g0040 a0001c0002t0057g0023 a0001c0002t0053g0040 a0001c0002t0057g0023	2	194	0.0103	12	c.-12 others(31): Show c.-12-38077_-12-38066dupGAAAGAAAGAAA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092280	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0066 a0001c0004t0066	a0001c0004t0066g0027 a0001c0004t0066g0027	1	194	0.0052	12	c.-16 others(31): Show c.-161-3183_-161-3172dupTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90094861	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG02965.hp2 others(1): Show HG02145.hp2 HG02559.hp1 HG02965.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0087 a0001c0002t0069 others(1): Show a0001c0001t0004 a0001c0001t0087 a0001c0002t0069 a0001c0003t0072	a0001c0001t0004g0016 a0001c0001t0087g0093 a0001c0002t0069g0087 others(1): Show a0001c0001t0004g0016 a0001c0001t0087g0093 a0001c0002t0069g0087 a0001c0003t0072g0167	4	194	0.0206	12	c.-16 others(31): Show c.-161-5764_-161-5753dupGTGTGTGTGTGT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90102839	T T	TAATAATA others(5): Show TAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0170 a0001c0001t0026g0170	1	194	0.0052	12	c.-16 others(33): Show c.-161-13731_-161-13730insTTTATTATTATT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(5): Show ATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0181 a0001c0002t0025g0181	1	194	0.0052	12	c.-16 others(33): Show c.-161-13921_-161-13920insAAAAAATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATTT others(5): Show ATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0186 a0001c0002t0025g0186	1	194	0.0052	12	c.-16 others(33): Show c.-161-13921_-161-13920insAAAAAAAATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATTTTT others(5): Show ATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp2 HG03927.hp1 HG00738.hp1 HG01255.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0001t0123 a0001c0002t0129 a0001c0001t0027 a0001c0001t0123 a0001c0002t0129	a0001c0001t0027g0187 a0001c0001t0123g0185 a0001c0002t0129g0191 a0001c0001t0027g0187 a0001c0001t0123g0185 a0001c0002t0129g0191	3	194	0.0155	12	c.-16 others(33): Show c.-161-13921_-161-13920insAAAAAAAAAATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90218920	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0112 a0001c0002t0039g0112	1	194	0.0052	12	c.-27 others(33): Show c.-274-12251_-274-12240dupACACACACACAC	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	3/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90295654	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0193 a0001c0001t0135g0193	1	194	0.0052	12	c.-44 others(29): Show c.-446+814_-446+825dupACACACACACAC	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	1/8			chr6	TogoVar
BAD_chr11_64264830_64289665	64271087	A A	ACACACAC others(5): Show ACACACACACACG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00621.hp1 others(27): Show HG00423.hp1 HG00558.hp1 HG00621.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01243.hp2 HG02056.hp1 HG02074.hp2 HG02145.hp1 HG02451.hp1 HG02572.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG03492.hp1 NA18522.hp1 NA18948.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp2 NA18977.hp2 NA18994.hp1 NA19043.hp2 NA19054.hp2 NA19067.hp1 NA19067.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0085 a0001c0001t0001g0086 others(26): Show a0001c0001t0001g0009 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0191 a0001c0001t0001g0232 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0328 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0048 a0001c0001t0004g0329 a0001c0002t0001g0236	30	388	0.0773	12	c.378 others(27): Show c.378+525_378+526insCGTGTGTGTGTG	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BAD_chr11_64264830_64289665	64271207	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG01070.hp1 others(4): Show HG00673.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp2 HG01123.hp2 HG01943.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0012 a0001c0001t0001g0209 a0001c0001t0001g0215 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0005g0226	7	388	0.0180	12	c.378 others(27): Show c.378+394_378+405dupTGTGTGTGTGTG	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BAD_chr11_64264830_64289665	64276284	G G	GTGTGTAT others(5): Show GTGTGTATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(80): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG02040.hp2 HG02074.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02735.hp1 HG03098.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18965.hp2 NA18971.hp1 NA18988.hp2 NA18991.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19011.hp1 NA19030.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0004t0004	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0019 others(72): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0199 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0001t0002g0301 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0338 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0329 a0001c0001t0004g0330 a0002c0004t0004g0101	83	388	0.2139	12	c.188 others(29): Show c.188-4482_188-4481insAATATATACACA	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	2/3			chr11	TogoVar
BAD_chr11_64264830_64289665	64276300	G G	GTGTGTGT others(5): Show GTGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03486.hp2 HG02965.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0028 a0001c0001t0001g0029	2	388	0.0052	12	c.188 others(29): Show c.188-4498_188-4497insTACATACACACA	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	2/3			chr11	TogoVar
BAG3_chr10_119646380_119682819	119646998	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(219): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0014	a0001c0001 a0001c0002 a0001c0007 others(10): Show a0001c0001 a0001c0002 a0001c0007 a0001c0016 a0001c0017 a0002c0003 a0003c0004 a0005c0006 a0006c0008 a0007c0021 a0008c0020 a0009c0011 a0014c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0007t0006 a0001c0016t0001 a0001c0017t0001 a0002c0003t0002 a0002c0003t0012 a0003c0004t0003 a0003c0004t0005 a0005c0006t0004 a0006c0008t0001 a0007c0021t0002 a0008c0020t0004 a0009c0011t0006 a0014c0022t0001	a0001c0001t0001g0038 a0001c0001t0001g0133 a0001c0001t0001g0167 others(176): Show a0001c0001t0001g0038 a0001c0001t0001g0133 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0003g0011 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0230 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0004g0012 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0042 a0001c0001t0004g0123 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0130 a0001c0001t0004g0154 a0001c0001t0004g0157 a0001c0001t0004g0234 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0272 a0001c0001t0004g0292 a0001c0001t0005g0030 a0001c0001t0005g0048 a0001c0001t0005g0114 a0001c0001t0005g0148 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0010g0283 a0001c0001t0011g0233 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0027 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0043 a0001c0002t0001g0082 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0158 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0217 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0273 a0001c0002t0001g0288 a0001c0002t0001g0304 a0001c0002t0001g0311 a0001c0002t0003g0001 a0001c0002t0003g0005 a0001c0002t0003g0015 a0001c0002t0003g0177 a0001c0002t0006g0001 a0001c0002t0006g0005 a0001c0002t0006g0014 a0001c0002t0006g0159 a0001c0002t0006g0176 a0001c0002t0006g0179 a0001c0002t0006g0186 a0001c0002t0006g0196 a0001c0002t0006g0204 a0001c0002t0007g0001 a0001c0002t0007g0172 a0001c0002t0007g0201 a0001c0002t0007g0293 a0001c0007t0006g0214 a0001c0007t0006g0314 a0001c0016t0001g0140 a0001c0017t0001g0135 a0002c0003t0002g0008 a0002c0003t0002g0019 a0002c0003t0002g0028 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0138 a0002c0003t0002g0141 a0002c0003t0002g0142 a0002c0003t0002g0143 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0280 a0002c0003t0002g0281 a0002c0003t0012g0028 a0003c0004t0003g0006 a0003c0004t0005g0004 a0003c0004t0005g0006 a0003c0004t0005g0041 a0003c0004t0005g0108 a0003c0004t0005g0238 a0005c0006t0004g0126 a0006c0008t0001g0215 a0007c0021t0002g0145 a0008c0020t0004g0125 a0009c0011t0006g0308 a0014c0022t0001g0035	222	420	0.5286	12	c.-46 others(23): Show c.-4678_-4677insAAAAAAAAAAAA	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding		4381		chr10	TogoVar
BAG3_chr10_119646380_119682819	119675893	C C	CCCCCTTC others(5): Show CCCCCTTCCCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02258.hp1 others(9): Show HG01891.hp2 HG02055.hp1 HG02258.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 NA18522.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0019 a0001c0001 a0002c0003 a0002c0019	a0001c0001t0001 a0001c0001t0003 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0002 a0002c0019t0006	a0001c0001t0001g0038 a0001c0001t0001g0209 a0001c0001t0001g0210 others(8): Show a0001c0001t0001g0038 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0003g0230 a0002c0003t0002g0069 a0002c0003t0002g0224 a0002c0019t0006g0085	12	420	0.0286	12	c.910 others(27): Show c.910-571_910-570insCCCCTTCCCCTT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3			chr10	TogoVar

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